SNP Links for Protein (Select 460417313) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:80485841 (GRCh38)
8:81398076 (GRCh37)
Canonical SPDI:: NC_000008.11:80485840:C:T
Gene:: ZBTB10 (Varview), LOC105375921 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/2 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.80485841C>T, NC_000008.10:g.81398076C>T, NM_001277145.2:c.58C>T, NM_001277145.1:c.58C>T, NP_001264074.1:p.Leu20Phe

Select item 14805368788.

rs1480536878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:80500081 (GRCh38)
8:81412316 (GRCh37)
Canonical SPDI:: NC_000008.11:80500080:T:C
Gene:: ZBTB10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.80500081T>C, NC_000008.10:g.81412316T>C, NM_023929.5:c.1560T>C, NM_023929.4:c.1560T>C, NM_001105539.3:c.1560T>C, NM_001105539.2:c.1560T>C, NM_001277145.2:c.684T>C, NM_001277145.1:c.684T>C

Select item 14778561349.

rs1477856134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:80499541 (GRCh38)
8:81411776 (GRCh37)
Canonical SPDI:: NC_000008.11:80499540:G:A,NC_000008.11:80499540:G:C
Gene:: ZBTB10 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.80499541G>A, NC_000008.11:g.80499541G>C, NC_000008.10:g.81411776G>A, NC_000008.10:g.81411776G>C, NM_023929.5:c.1020G>A, NM_023929.5:c.1020G>C, NM_023929.4:c.1020G>A, NM_023929.4:c.1020G>C, NM_001105539.3:c.1020G>A, NM_001105539.3:c.1020G>C, NM_001105539.2:c.1020G>A, NM_001105539.2:c.1020G>C, NM_001277145.2:c.144G>A, NM_001277145.2:c.144G>C, NM_001277145.1:c.144G>A, NM_001277145.1:c.144G>C, NP_076418.3:p.Arg340Ser, NP_001099009.1:p.Arg340Ser, NP_001264074.1:p.Arg48Ser

Select item 147514796610.

rs1475147966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:80499525 (GRCh38)
8:81411760 (GRCh37)
Canonical SPDI:: NC_000008.11:80499524:G:C
Gene:: ZBTB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.80499525G>C, NC_000008.10:g.81411760G>C, NM_023929.5:c.1004G>C, NM_023929.4:c.1004G>C, NM_001105539.3:c.1004G>C, NM_001105539.2:c.1004G>C, NM_001277145.2:c.128G>C, NM_001277145.1:c.128G>C, NP_076418.3:p.Cys335Ser, NP_001099009.1:p.Cys335Ser, NP_001264074.1:p.Cys43Ser

Select item 147392059911.

rs1473920599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:80519306 (GRCh38)
8:81431541 (GRCh37)
Canonical SPDI:: NC_000008.11:80519305:A:T
Gene:: ZBTB10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.80519306A>T, NC_000008.10:g.81431541A>T, NM_023929.5:c.2322A>T, NM_023929.4:c.2322A>T, NM_001105539.3:c.2394A>T, NM_001105539.2:c.2394A>T, NM_001277145.2:c.1518A>T, NM_001277145.1:c.1518A>T

Select item 147350585712.

rs1473505857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:80518457 (GRCh38)
8:81430692 (GRCh37)
Canonical SPDI:: NC_000008.11:80518456:A:C,NC_000008.11:80518456:A:G
Gene:: ZBTB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.80518457A>C, NC_000008.11:g.80518457A>G, NC_000008.10:g.81430692A>C, NC_000008.10:g.81430692A>G, NM_001105539.3:c.2015A>C, NM_001105539.3:c.2015A>G, NM_001105539.2:c.2015A>C, NM_001105539.2:c.2015A>G, NM_001277145.2:c.1139A>C, NM_001277145.2:c.1139A>G, NM_001277145.1:c.1139A>C, NM_001277145.1:c.1139A>G, NP_001099009.1:p.Lys672Thr, NP_001099009.1:p.Lys672Arg, NP_001264074.1:p.Lys380Thr, NP_001264074.1:p.Lys380Arg

Select item 146984858913.

rs1469848589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:80500197 (GRCh38)
8:81412432 (GRCh37)
Canonical SPDI:: NC_000008.11:80500196:T:C
Gene:: ZBTB10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.80500197T>C, NC_000008.10:g.81412432T>C, NM_023929.5:c.1676T>C, NM_023929.4:c.1676T>C, NM_001105539.3:c.1676T>C, NM_001105539.2:c.1676T>C, NM_001277145.2:c.800T>C, NM_001277145.1:c.800T>C, NP_076418.3:p.Ile559Thr, NP_001099009.1:p.Ile559Thr, NP_001264074.1:p.Ile267Thr

Select item 146797812814.

rs1467978128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:80518412 (GRCh38)
8:81430647 (GRCh37)
Canonical SPDI:: NC_000008.11:80518411:A:G
Gene:: ZBTB10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.80518412A>G, NC_000008.10:g.81430647A>G, NM_023929.5:c.1970A>G, NM_023929.4:c.1970A>G, NM_001105539.3:c.1970A>G, NM_001105539.2:c.1970A>G, NM_001277145.2:c.1094A>G, NM_001277145.1:c.1094A>G, NP_076418.3:p.His657Arg, NP_001099009.1:p.His657Arg, NP_001264074.1:p.His365Arg

Select item 146227858315.

rs1462278583 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 8:80519431 (GRCh38)
8:81431666 (GRCh37)
Canonical SPDI:: NC_000008.11:80519428:AGGAG:AG
Gene:: ZBTB10 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.80519431_80519433del, NC_000008.10:g.81431666_81431668del, NM_023929.5:c.2447_2449del, NM_023929.4:c.2447_2449del, NM_001105539.3:c.2519_2521del, NM_001105539.2:c.2519_2521del, NM_001277145.2:c.1643_1645del, NM_001277145.1:c.1643_1645del, NP_076418.3:p.Gly816del, NP_001099009.1:p.Gly840del, NP_001264074.1:p.Gly548del

Select item 146219513616.

rs1462195136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:80485864 (GRCh38)
8:81398099 (GRCh37)
Canonical SPDI:: NC_000008.11:80485863:C:T
Gene:: ZBTB10 (Varview), LOC105375921 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.80485864C>T, NC_000008.10:g.81398099C>T, NM_001277145.2:c.81C>T, NM_001277145.1:c.81C>T

Select item 146087918717.

rs1460879187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:80485849 (GRCh38)
8:81398084 (GRCh37)
Canonical SPDI:: NC_000008.11:80485848:G:A
Gene:: ZBTB10 (Varview), LOC105375921 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.80485849G>A, NC_000008.10:g.81398084G>A, NM_001277145.2:c.66G>A, NM_001277145.1:c.66G>A

Select item 146006965818.

rs1460069658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:80500196 (GRCh38)
8:81412431 (GRCh37)
Canonical SPDI:: NC_000008.11:80500195:A:T
Gene:: ZBTB10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.80500196A>T, NC_000008.10:g.81412431A>T, NM_023929.5:c.1675A>T, NM_023929.4:c.1675A>T, NM_001105539.3:c.1675A>T, NM_001105539.2:c.1675A>T, NM_001277145.2:c.799A>T, NM_001277145.1:c.799A>T, NP_076418.3:p.Ile559Phe, NP_001099009.1:p.Ile559Phe, NP_001264074.1:p.Ile267Phe

Select item 145723901519.

rs1457239015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:80519235 (GRCh38)
8:81431470 (GRCh37)
Canonical SPDI:: NC_000008.11:80519234:G:A
Gene:: ZBTB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.80519235G>A, NC_000008.10:g.81431470G>A, NM_023929.5:c.2251G>A, NM_023929.4:c.2251G>A, NM_001105539.3:c.2323G>A, NM_001105539.2:c.2323G>A, NM_001277145.2:c.1447G>A, NM_001277145.1:c.1447G>A, NP_076418.3:p.Asp751Asn, NP_001099009.1:p.Asp775Asn, NP_001264074.1:p.Asp483Asn

Select item 145593614520.

rs1455936145 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:80500272 (GRCh38)
8:81412507 (GRCh37)
Canonical SPDI:: NC_000008.11:80500271:T:A
Gene:: ZBTB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.80500272T>A, NC_000008.10:g.81412507T>A, NM_023929.5:c.1751T>A, NM_023929.4:c.1751T>A, NM_001105539.3:c.1751T>A, NM_001105539.2:c.1751T>A, NM_001277145.2:c.875T>A, NM_001277145.1:c.875T>A, NP_076418.3:p.Phe584Tyr, NP_001099009.1:p.Phe584Tyr, NP_001264074.1:p.Phe292Tyr

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